Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.R232G

SHH

643 papers

RefSeq Summary

This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior lim...

Pfam Domains

HH_signalaa 24–184UCSCHedgehog amino-terminal signalling domain
Hintaa 186–448UCSCHint module

Gene Aliases

HGNC Name

sonic hedgehog signaling molecule

HGNC Previous Symbols

HPE3; HLP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000193.4
p.R232G
c.694C>G
Surrounding Variants
1 paper
NM_000193.4
p.R232R
c.694C>A
1 paper
NM_000193.4
p.G231V
c.692G>T
1 paper
NM_000193.4
p.L233R
c.698T>G
1 paper
NM_000193.4
p.Q230Q
c.690G>A
1 paper
NM_000193.4
p.L233L
c.699G>T
5 papers
NM_000193.4
p.L234P
c.701T>C
1 paper
NM_000193.4
p.D229G
c.686A>G
1 paper
NM_000193.4
p.D229fs
c.685_686fs
2 papers
NM_000193.4
p.Y235C
c.704A>G
1 paper
NM_000193.4
p.D228Y
c.682G>T
1 paper
NM_000193.4
p.D228insFs
c.682_683insC
3 papers
NM_000193.4
p.D228N
c.682G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."